检索结果 - John Neidhardt

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  1. 1
    The molecular basis of human retinal and vitreoretinal diseases

    The molecular basis of human retinal and vitreoretinal diseases 由 Wolfgang Berger, Barbara Kloeckener‐Gruissem, John Neidhardt

    出版 2010
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  2. 2
    Gene Therapeutic Approach Using Mutation-adapted U1 snRNA to Correct a RPGR Splice Defect in Patient-derived Cells

    Gene Therapeutic Approach Using Mutation-adapted U1 snRNA to Correct a RPGR Splice Defect in Patient-derived Cells 由 Esther Glaus, F Schmid, Romain Da Costa, Wolfgang Berger, John Neidhardt

    出版 2011
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  3. 3
    <i>ABCA4</i>and<i>ROM1:</i>Implications for Modification of the<i>PRPH2</i>-Associated Macular Dystrophy Phenotype

    <i>ABCA4</i>and<i>ROM1:</i>Implications for Modification of the<i>PRPH2</i>-Associated Macular Dystrophy Phenotype 由 Charlotte M. Poloschek, Michael Bach, Wolf A. Lagrèze, Esther Glaus, Johannes R. Lemke, Wolfgang Berger, John Neidhardt

    出版 2010
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  4. 4
    Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria

    Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria 由 Barbara Kloeckener‐Gruissem, Kristof Vandekerckhove, Gudrun Nürnberg, John Neidhardt, Christina Zeitz, Peter Nürnberg, Isaak Schipper, Wolfgang Berger

    出版 2008
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  5. 5
    U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation

    U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation 由 F Schmid, Esther Glaus, Daniel Barthelmes, Manfred Fliegauf, Harald Gaspar, Gudrun Nürnberg, Peter Nürnberg, Heymut Omran, Wolfgang Berger, John Neidhardt

    出版 2011
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  6. 6
    Mutation in the Auxiliary Calcium-Channel Subunit CACNA2D4 Causes Autosomal Recessive Cone Dystrophy

    Mutation in the Auxiliary Calcium-Channel Subunit CACNA2D4 Causes Autosomal Recessive Cone Dystrophy 由 Katharina Agnes Wycisk, Christina Zeitz, Silke Feil, Mariana Wittmer, U. Förster, John Neidhardt, Bernd Wissinger, Eberhart Zrenner, Robert Wilke, Susanne Kohl, Wolfgang Berger

    出版 2006
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  7. 7
    Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies

    Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies 由 Amit K. Tiwari, Angela Bahr, Luzy Bähr, Johannes Fleischhauer, Martin S. Zinkernagel, N. Winkler, Daniel Barthelmes, Lieselotte Berger, Christina Gerth‐Kahlert, John Neidhardt, Wolfgang Berger

    出版 2016
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  8. 8
    The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter

    The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter 由 Jeannette Abplanalp, Endre Laczkó, Nancy J. Philp, John Neidhardt, Jurian Zuercher, Philipp Braun, Daniel F. Schorderet, Francis L. Munier, François Verrey, Wolfgang Berger, Simone M. R. Camargo, Barbara Kloeckener‐Gruissem

    出版 2013
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  9. 9
    Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies

    Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies 由 Nicola Glöckle, Susanne Kohl, Julia Mohr, Tim Scheurenbrand, Andrea Sprecher, Nicole Weisschuh, Antje Bernd, Günther Rudolph, Max Schubach, Charlotte M. Poloschek, Eberhart Zrenner, Saskia Biskup, Wolfgang Berger, Bernd Wissinger, John Neidhardt

    出版 2013
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  10. 10
    Dominant optic atrophy: Culprit mitochondria in the optic nerve

    Dominant optic atrophy: Culprit mitochondria in the optic nerve 由 Guy Lenaers, Albert Neutzner, Yannick Le Dantec, Christoph Jüschke, Ting Xiao, Sarah Decembrini, Sebastian Swirski, Sinja Kieninger, Cavit Ağca, Ungsoo Samuel Kim, Pascal Reynier, Patrick Yu‐Wai‐Man, John Neidhardt, Bernd Wissinger

    出版 2020
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  11. 11
    <i>GRIN2B</i> mutations in west syndrome and intellectual disability with focal epilepsy

    <i>GRIN2B</i> mutations in west syndrome and intellectual disability with focal epilepsy 由 Johannes R. Lemke, Rik Hendrickx, Kirsten Geider, Bodo Laube, Michael Schwake, Victoria L. Harvey, Victoria M. James, Alex Pepler, Isabelle Steiner, Konstanze Hörtnagel, John Neidhardt, Susanne Ruf, Markus Wolff, Deborah Bartholdi, Roberto Caraballo, Konrad Platzer, Arvid Suls, Peter De Jonghe, Saskia Biskup, Sarah Weckhuysen

    出版 2013
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